Summitt syndrome

Orpha code: 3210OMIM code: 272350

Definition

A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.

Disease data
Classification

Malformation syndrome

ORPHA code
3210
OMIM code
272350
ICD10 code
Q82.0
ICD11 code
-

No additional description.

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